RT Journal Article
SR Electronic
T1 Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 310
OP 312
DO 10.1136/jnnp.2009.176255
VO 81
IS 3
A1 Sacha Ferdinandusse
A1 Simon Barker
A1 Katherine Lachlan
A1 Marinus Duran
A1 Hans R Waterham
A1 Ronald J A Wanders
A1 Simon Hammans
YR 2010
UL http://jnnp.bmj.com/content/81/3/310.abstract
AB Peroxisomal acyl-coenzyme A oxidase deficiency (formerly also called pseudoneonatal adrenoleucodystrophy) is a disorder of peroxisomal fatty acid oxidation with a severe presentation. Most patients present at birth or in early infancy, and the mean age of death was 5 years in a recently published cohort of 22 patients. Brain imaging shows a progressive leucodystrophy. The authors report here the first adult patients (two siblings, 52 and 55 years old) with peroxisomal acyl-coenzyme A oxidase deficiency with a remarkably mild clinical presentation. Magnetic resonance brain imaging revealed profound atrophy of the brainstem and cerebellum.